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Research
  1. Queen Mary University of London
  2. Research
  3. Publications

Publications: Dr Letizia Vestito

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Ishida M, Vestito L, Maharaj A, Cipriani V, Smedley D, Storr H ( 2023 ) . Novel insights into genetic causes of childhood growth failure from patients recruited to the 100 000 Genomes Project . Endocrine Abstracts
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A et al. ( 2023 ) . Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy . Genetics in Medicine vol. 25 , ( 10 )
Pavinato L, Stanic J, Barzasi M, Gurgone A, Chiantia G, Cipriani V, Eberini I, Palazzolo L et al. ( 2023 ) . Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder . Genetics in Medicine vol. 25 , ( 11 )
Chen Z, Tucci A, Cipriani V, Gustavsson EK, Ibañez K, Reynolds RH, Zhang D, Vestito L et al. ( 2023 ) . Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia . Brain vol. 146 , ( 7 ) 2869 - 2884 .
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A et al. ( 2022 ) . Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy . Genetics in Medicine vol. 24 , ( 10 ) 2079 - 2090 .
Chen Z, Cipriani V, Zhang D, Tucci A, Vestito L, Smedley D, Houlden H, Botia J et al. ( 2022 ) . 022 Functional genomics and transcriptomics further characterise and potentially improve diagnostic yield of hereditary ataxias . Journal of Neurology Neurosurgery & Psychiatry vol. 93 , ( 6 ) a107.3 - a1a108 .
Montalban E, Giralt A, Taing L, Schut EHS, Supiot LF, Castell L, Nakamura Y, de Pins B et al. ( 2022 ) . Translational profiling of mouse dopaminoceptive neurons reveals region-specific gene expression, exon usage, and striatal prostaglandin E2 modulatory effects . Molecular Psychiatry vol. 27 , ( 4 ) 2068 - 2079 .
Smedley D, Smith KR, Martin AR, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G et al. ( 2021 ) . 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report . New England Journal of Medicine vol. 385 , ( 20 ) 1868 - 1880 .
Konopka T, Vestito L, Smedley D ( 2021 ) . Dimensional reduction of phenotypes from 53,000 mouse models reveals a diverse landscape of gene function . Bioinformatics Advances vol. 1 , ( 1 )
Bryant D, Seda M, Peskett E, Maurer C, Pomeranz G, Ghosh M, Hawkins TA, Cleak J et al. ( 2020 ) . Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations . Scientific Reports vol. 10 , ( 1 )
Smedley D, Abbs S, Arno G, Baple E, Barnes M, Beales P, Bitner-Glindzicz M, Black G et al. ( 2020 ) . The impact of the 100,000 Genomes Project on rare disease in national healthcare . EUROPEAN JOURNAL OF HUMAN GENETICS . vol. 28 , 54 - 55 .
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